GenTIGS

List of monogenic disorders and their associated genes(Heterogeneity and Homogeneity)
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in any one across of genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.

View information by inheritance mode

S.No.	Genetic Disorders Modes of inheritance	Category	Gene symbol	Indian context	Links
451	Neu-Laxova syndrome 1 Autosomal recessive	Metabolic disorders	PHGDH phosphoglycerate dehydrogenase	Reports Updated as of Aug 17, 2026	PubMed
452	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies Autosomal recessive	Neurodevelopmental disorders	SMPD4 sphingomyelin phosphodiesterase 4	Reports Updated as of Aug 17, 2026	PubMed
453	Neurofibromatosis type 1 Autosomal dominant	Bone disorders	NF1 neurofibromin 1	Reports Updated as of Sep 05, 2023	PubMed
454	Neurofibromatosis type 2 Autosomal dominant	Tumor/Cancer	NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	Reports Updated as of Sep 05, 2023	PubMed
455	Neuromyelitis optica spectrum disorder	Eye disorders	AQP4 aquaporin 4	Reports Updated as of Sep 05, 2023	PubMed
456	Neuropathy, congenital hypomyelinating, 3 Autosomal recessive	Neuromuscular disorders	CNTNAP1 contactin associated protein 1	Reports Updated as of Aug 17, 2026	PubMed
457	Neutral 1 amino acid transport defect Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	SLC6A19 solute carrier family 6 member 19	Reports Updated as of Mar 30, 2026	PubMed
458	Neutral lipid storage myopathy Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	PNPLA2 patatin like phospholipase domain containing 2	Reports Updated as of Jan 04, 2024	PubMed
459	Niemann-Pick disease, type B Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	SMPD1 sphingomyelin phosphodiesterase 1	Reports Updated as of Sep 15, 2022	PubMed
460	Nut midline carcinoma	Cancer disorders	NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic	Reports Updated as of Mar 30, 2026	PubMed

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